ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for EPB41L2

Gene summary

Gene information	Gene symbol	EPB41L2
	Gene ID	2037
	Gene name	erythrocyte membrane protein band 4.1 like 2
	Synonyms	4.1-G\|4.1G
	Cytomap	6q23.1-q23.2
	Type of gene	protein-coding
	Description	band 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1
	Modification date	20200313
	UniProtAcc	A0A2R8Y5B3, E9PHY5, E9PIG0, E9PII3, E9PJP4, E9PK52, E9PMG5, E9PMV8, E9PN54, E9PPC9, E9PQD2, E9PQN0, E9PRG1, H0Y5B0, I6L9B1, O43491, Q6R5J7, Q6ZSX4, Q9H1C6, Q9UG62,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for EPB41L2

Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

ENSG00000079819

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
STG	UP	ENST00000530481.5	EPB41L2-224:protein_coding:EPB41L2	1.193523e+02	8.556877e-01	3.858676e-04	2.383976e-02
CB	UP	ENST00000639623.1	EPB41L2-233:protein_coding:EPB41L2	3.370653e+01	1.014192e+00	2.550504e-04	1.635709e-03
CB	DOWN	ENST00000445890.6	EPB41L2-205:protein_coding:EPB41L2	1.099676e+02	-8.855747e-01	3.713100e-03	1.537587e-02
TC	UP	ENST00000337057.8	EPB41L2-201:protein_coding:EPB41L2	2.926184e+02	1.139780e+00	1.132657e-08	9.987424e-07
TC	UP	ENST00000456097.6	EPB41L2-207:protein_coding:EPB41L2	1.129878e+01	8.352785e-01	3.210635e-06	1.044565e-04

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EPB41L2

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_101530	chr6	130865536:130865634:130880144:130880206:130880454:130880489	130880144:130880206
exon_skip_102109	chr6	130870077:130870126:130878104:130878250:130880454:130880489	130878104:130878250
exon_skip_104827	chr6	130870328:130870381:130876674:130876775:130878104:130878250	130876674:130876775
exon_skip_112118	chr6	130870341:130870381:130876674:130876775:130878104:130878214	130876674:130876775
exon_skip_116444	chr6	130870328:130870381:130876674:130876775:130878104:130878214	130876674:130876775
exon_skip_118628	chr6	130870077:130870126:130870328:130870381:130876674:130876775	130870328:130870381
exon_skip_140195	chr6	130870328:130870381:130872371:130872538:130878104:130878214	130872371:130872538
exon_skip_16457	chr6	130863638:130863718:130865536:130865634:130869812:130870126	130865536:130865634
exon_skip_188618	chr6	130878104:130878250:130880144:130880206:130885096:130885268	130880144:130880206
exon_skip_196460	chr6	130865587:130865634:130869812:130870126:130885096:130885268	130869812:130870126
exon_skip_204624	chr6	130908821:130908863:130926605:130926709:130955105:130955317	130926605:130926709
exon_skip_220480	chr6	130839352:130840598:130858136:130858243:130863638:130863718	130858136:130858243
exon_skip_22170	chr6	130867459:130867581:130869563:130870126:130885096:130885268	130869563:130870126
exon_skip_222079	chr6	130867459:130867581:130869812:130870126:130885096:130885268	130869812:130870126
exon_skip_225327	chr6	130865536:130865634:130869812:130870126:130885096:130885268	130869812:130870126
exon_skip_228893	chr6	130863638:130863718:130865536:130865634:130867459:130867581	130865536:130865634
exon_skip_236516	chr6	130867459:130867581:130870328:130870381:130872371:130872538	130870328:130870381
exon_skip_255419	chr6	130865587:130865634:130867459:130867581:130885096:130885268	130867459:130867581
exon_skip_257898	chr6	130870341:130870381:130872371:130872538:130878104:130878214	130872371:130872538
exon_skip_260990	chr6	130878104:130878250:130880144:130880206:130880454:130880489	130880144:130880206
exon_skip_286551	chr6	130865587:130865634:130867459:130867581:130869812:130870126	130867459:130867581
exon_skip_293466	chr6	130867459:130867581:130870328:130870381:130878104:130878214	130870328:130870381
exon_skip_29428	chr6	130867459:130867581:130869563:130870126:130878104:130878214	130869563:130870126
exon_skip_30915	chr6	130870077:130870126:130870328:130870381:130872371:130872538	130870328:130870381
exon_skip_38491	chr6	130858225:130858243:130863638:130863718:130885096:130885268	130863638:130863718
exon_skip_66731	chr6	130865536:130865634:130867459:130867581:130869812:130870126	130867459:130867581
exon_skip_74668	chr6	130840376:130840598:130858131:130858243:130863638:130863718	130858131:130858243
exon_skip_74729	chr6	130872371:130872538:130878104:130878250:130880454:130880489	130878104:130878250
exon_skip_78581	chr6	130908821:130908863:130926605:130926709:130955105:130955167	130926605:130926709
exon_skip_79976	chr6	130956132:130956499:131015281:131015333:131015819:131015842	131015281:131015333
exon_skip_81819	chr6	130865536:130865634:130867459:130867581:130869563:130870126	130867459:130867581
exon_skip_89427	chr6	130863638:130863718:130865536:130865634:130885096:130885268	130865536:130865634
exon_skip_92567	chr6	130865536:130865634:130867459:130867581:130885096:130885268	130867459:130867581

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_22170	Mayo_TC	7.835366e-01	6.620513e-01	1.214853e-01	1.333417e-05
exon_skip_205090	Mayo_TC	2.703659e-01	3.992424e-01	-1.288766e-01	1.318384e-06

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Open reading frame (ORF) annotation in the exon skipping event for EPB41L2

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000337057	130858131	130858243	5CDS-5UTR
ENST00000368128	130858136	130858243	In-frame
ENST00000337057	130865536	130865634	In-frame
ENST00000368128	130865536	130865634	In-frame
ENST00000337057	130867459	130867581	In-frame
ENST00000368128	130867459	130867581	In-frame
ENST00000337057	130869563	130870126	In-frame
ENST00000368128	130869563	130870126	In-frame
ENST00000337057	130880144	130880206	In-frame
ENST00000368128	130880144	130880206	In-frame
ENST00000337057	130926605	130926709	In-frame
ENST00000368128	130926605	130926709	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000337057	130858131	130858243	5CDS-5UTR
ENST00000337057	130865536	130865634	In-frame
ENST00000368128	130865536	130865634	In-frame
ENST00000337057	130869563	130870126	In-frame
ENST00000368128	130869563	130870126	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000337057	130858131	130858243	5CDS-5UTR
ENST00000337057	130865536	130865634	In-frame
ENST00000368128	130865536	130865634	In-frame
ENST00000337057	130867459	130867581	In-frame
ENST00000368128	130867459	130867581	In-frame
ENST00000337057	130869563	130870126	In-frame
ENST00000368128	130869563	130870126	In-frame
ENST00000337057	130880144	130880206	In-frame
ENST00000368128	130880144	130880206	In-frame
ENST00000337057	130926605	130926709	In-frame
ENST00000368128	130926605	130926709	In-frame

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Infer the effects of exon skipping event on protein functional features for EPB41L2

p-ENSG00000079819_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000337057	4474	1005	130926605	130926709	888	991	235	269
ENST00000368128	4473	1005	130926605	130926709	897	1000	235	269
ENST00000337057	4474	1005	130880144	130880206	2016	2077	611	631
ENST00000368128	4473	1005	130880144	130880206	2025	2086	611	631
ENST00000337057	4474	1005	130869563	130870126	2226	2788	681	868
ENST00000368128	4473	1005	130869563	130870126	2235	2797	681	868
ENST00000337057	4474	1005	130867459	130867581	2790	2911	869	909
ENST00000368128	4473	1005	130867459	130867581	2799	2920	869	909
ENST00000337057	4474	1005	130865536	130865634	2913	3010	910	942
ENST00000368128	4473	1005	130865536	130865634	2922	3019	910	942
ENST00000368128	4473	1005	130858136	130858243	3102	3208	970	1005

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000337057	4474	1005	130869563	130870126	2226	2788	681	868
ENST00000368128	4473	1005	130869563	130870126	2235	2797	681	868
ENST00000337057	4474	1005	130865536	130865634	2913	3010	910	942
ENST00000368128	4473	1005	130865536	130865634	2922	3019	910	942

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000337057	4474	1005	130926605	130926709	888	991	235	269
ENST00000368128	4473	1005	130926605	130926709	897	1000	235	269
ENST00000337057	4474	1005	130880144	130880206	2016	2077	611	631
ENST00000368128	4473	1005	130880144	130880206	2025	2086	611	631
ENST00000337057	4474	1005	130869563	130870126	2226	2788	681	868
ENST00000368128	4473	1005	130869563	130870126	2235	2797	681	868
ENST00000337057	4474	1005	130867459	130867581	2790	2911	869	909
ENST00000368128	4473	1005	130867459	130867581	2799	2920	869	909
ENST00000337057	4474	1005	130865536	130865634	2913	3010	910	942
ENST00000368128	4473	1005	130865536	130865634	2922	3019	910	942

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O43491	235	269	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	235	269	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	235	269	218	499	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
O43491	235	269	218	499	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
O43491	611	631	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	611	631	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	611	631	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	611	631	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	611	631	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	611	631	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	611	631	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	611	631	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	611	631	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491	611	631	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491	611	631	623	623	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	623	623	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	627	627	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	627	627	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	611	676	Region	Note=Spectrin--actin-binding
O43491	611	631	611	676	Region	Note=Spectrin--actin-binding
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	869	909	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	869	909	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	869	909	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	869	909	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	869	909	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	869	909	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	869	909	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	869	909	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	869	909	855	1005	Region	Note=C-terminal (CTD)
O43491	869	909	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)
O43491	970	1005	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	970	1005	855	1005	Region	Note=C-terminal (CTD)

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
O43491	235	269	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	235	269	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	235	269	218	499	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
O43491	235	269	218	499	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
O43491	611	631	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	611	631	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	611	631	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	611	631	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	611	631	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	611	631	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	611	631	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	611	631	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	611	631	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491	611	631	614	614	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17081983,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491	611	631	623	623	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	623	623	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	627	627	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	627	627	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	611	631	611	676	Region	Note=Spectrin--actin-binding
O43491	611	631	611	676	Region	Note=Spectrin--actin-binding
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	612	681	Alternative sequence	ID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	715	715	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	718	718	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	763	763	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O70318
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	828	828	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	681	868	855	1005	Region	Note=C-terminal (CTD)
O43491	869	909	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	869	909	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	869	909	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	869	909	612	869	Alternative sequence	ID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O43491	869	909	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	869	909	787	869	Alternative sequence	ID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491	869	909	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	869	909	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	869	909	855	1005	Region	Note=C-terminal (CTD)
O43491	869	909	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	612	943	Alternative sequence	ID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	2	1005	Chain	ID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)
O43491	910	942	855	1005	Region	Note=C-terminal (CTD)

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3'-UTR located exon skipping events that lost miRNA binding sites in EPB41L2

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for EPB41L2

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for EPB41L2

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41L2

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
PCC	exon_skip_260990	rs6569714	chr6:130926981	7.422668e-10	5.746929e-07

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Correlation with RNA binding proteins (RBPs) for EPB41L2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_22170	4.403285e-01	2.987328e-08
CB	CNOT4	exon_skip_22170	4.292672e-01	7.144297e-08
CB	HNRNPA2B1	exon_skip_22170	4.296341e-01	6.944044e-08
CB	SRSF1	exon_skip_22170	4.054505e-01	4.214447e-07
CB	CNOT4	exon_skip_222079	4.283740e-01	8.499827e-08
CB	HNRNPA2B1	exon_skip_222079	4.079315e-01	3.873918e-07
CB	CNOT4	exon_skip_48712	4.018317e-01	4.978126e-07
FL	HNRNPK	exon_skip_228893	-4.014028e-01	4.605653e-09
HCC	PCBP4	exon_skip_142249	-4.310874e-01	1.091071e-11
HCC	PCBP4	exon_skip_115687	-4.705142e-01	1.911604e-16
HCC	RBM5	exon_skip_6313	-4.256207e-01	3.718683e-12
HCC	UNK	exon_skip_6313	-4.138393e-01	1.632881e-11
HCC	FUBP3	exon_skip_6313	-4.622384e-01	2.552457e-14
HCC	RBM3	exon_skip_51754	-6.779130e-01	7.339381e-35
HCC	SRSF2	exon_skip_118971	-4.440666e-01	2.230535e-14
HCC	RBMS3	exon_skip_118971	-4.414207e-01	3.305485e-14
HCC	RBM3	exon_skip_118971	-6.237406e-01	2.692242e-30
HCC	PCBP4	exon_skip_118971	-5.928445e-01	7.950444e-27
HCC	SRSF5	exon_skip_118971	-4.901919e-01	1.318406e-17
HCC	RBM3	exon_skip_74070	-5.695946e-01	7.543125e-24
HCC	RBM3	exon_skip_22170	-5.020160e-01	7.795178e-19
HCC	RBM3	exon_skip_206250	-5.737359e-01	3.012341e-24
HCC	RBM3	exon_skip_222079	-6.077299e-01	5.906584e-29
HCC	PCBP4	exon_skip_222079	-4.008653e-01	5.826167e-12
HCC	MSI1	exon_skip_205090	-4.445211e-01	3.260768e-14
HCC	FUBP1	exon_skip_205090	-4.008978e-01	1.297181e-11
HCC	PTBP1	exon_skip_205090	-4.701802e-01	6.321685e-16
HCC	HNRNPF	exon_skip_205090	-4.114962e-01	3.277028e-12
IFG	TARDBP	exon_skip_22170	4.843178e-01	2.236438e-02
IFG	PABPN1	exon_skip_22170	4.662336e-01	2.873339e-02
IFG	ELAVL1	exon_skip_22170	4.526704e-01	3.439390e-02
IFG	CNOT4	exon_skip_22170	4.667798e-01	2.852199e-02
IFG	TRNAU1AP	exon_skip_22170	5.033918e-01	1.692719e-02
IFG	PCBP1	exon_skip_22170	4.618429e-01	3.047825e-02
IFG	RALYL	exon_skip_22170	4.984461e-01	1.822157e-02
IFG	RBM23	exon_skip_22170	4.515401e-01	3.490261e-02
IFG	PABPC4	exon_skip_22170	4.532355e-01	3.414175e-02
IFG	SRSF4	exon_skip_22170	4.438790e-01	3.850868e-02
IFG	TARDBP	exon_skip_206250	5.660523e-01	9.276889e-03
IFG	CNOT4	exon_skip_206250	5.850905e-01	6.729788e-03
IFG	RBM5	exon_skip_206250	4.501320e-01	4.642413e-02
IFG	RBM3	exon_skip_206250	-4.907794e-01	2.800629e-02
IFG	TRA2A	exon_skip_206250	5.111031e-01	2.127247e-02
IFG	PABPC1	exon_skip_206250	5.481929e-01	1.233162e-02
IFG	PABPC4	exon_skip_206250	5.020703e-01	2.408521e-02
IFG	TARDBP	exon_skip_222079	4.264521e-01	3.351908e-02
IFG	CNOT4	exon_skip_222079	4.400085e-01	2.773000e-02
IFG	RBM3	exon_skip_222079	-4.225963e-01	3.533058e-02
IFG	PCBP1	exon_skip_222079	4.938309e-01	1.211158e-02
IFG	ILF2	exon_skip_222079	4.268377e-01	3.334208e-02
IFG	RBM24	exon_skip_222079	4.677092e-01	1.839316e-02
IFG	HNRNPA0	exon_skip_222079	4.632459e-01	1.969394e-02
IFG	HNRNPA2B1	exon_skip_222079	4.037028e-01	4.536253e-02
IFG	HNRNPAB	exon_skip_222079	4.571768e-01	2.158193e-02
IFG	RBM23	exon_skip_222079	5.232328e-01	7.275752e-03
IFG	PABPC4	exon_skip_222079	4.746496e-01	1.651036e-02
IFG	SRSF4	exon_skip_222079	4.760811e-01	1.614239e-02
IFG	SRSF9	exon_skip_222079	4.901671e-01	1.286700e-02
IFG	NOVA1	exon_skip_222079	4.593148e-01	2.090077e-02
IFG	ZNF326	exon_skip_48712	-4.340154e-01	3.408796e-02
PCC	RBMS2	exon_skip_142249	-4.958804e-01	9.536621e-11
PCC	RBFOX2	exon_skip_142249	4.686140e-01	1.293565e-09
PCC	ZNF326	exon_skip_142249	-4.041455e-01	2.658040e-07
PCC	SAMD4A	exon_skip_142249	-4.663594e-01	1.588719e-09
PCC	TRNAU1AP	exon_skip_142249	-4.017948e-01	3.163004e-07
PCC	ZFP36	exon_skip_142249	-4.279922e-01	4.214028e-08
PCC	PTBP1	exon_skip_142249	-5.230883e-01	5.563653e-12
PCC	HNRNPF	exon_skip_142249	-5.370903e-01	1.164981e-12
PCC	PTBP1	exon_skip_53303	4.397242e-01	1.960223e-10
PCC	PABPC1	exon_skip_53303	4.000329e-01	9.838489e-09
PCC	RBMS2	exon_skip_150539	-4.738390e-01	1.469716e-10
PCC	ELAVL4	exon_skip_150539	4.386081e-01	4.244672e-09
PCC	ZNF326	exon_skip_150539	-4.954153e-01	1.538567e-11
PCC	IGF2BP2	exon_skip_150539	-4.275824e-01	1.126701e-08
PCC	TRNAU1AP	exon_skip_150539	-4.290468e-01	9.916743e-09
PCC	PCBP4	exon_skip_150539	-4.115532e-01	4.382316e-08
PCC	ZFP36	exon_skip_150539	-4.145166e-01	3.427334e-08
PCC	FUBP3	exon_skip_150539	-4.364226e-01	5.165242e-09
PCC	PTBP1	exon_skip_150539	-5.275851e-01	3.910691e-13
PCC	CPEB1	exon_skip_150539	4.522422e-01	1.208427e-09
PCC	PABPC1	exon_skip_150539	-4.195224e-01	2.250477e-08
PCC	HNRNPF	exon_skip_150539	-4.771491e-01	1.050198e-10
PCC	RBM3	exon_skip_51754	-5.685597e-01	8.394004e-17
PCC	RBM3	exon_skip_118971	-4.719490e-01	2.237393e-12
PCC	ELAVL4	exon_skip_74070	-4.031679e-01	2.955843e-09
PCC	RBM3	exon_skip_74070	-5.035164e-01	2.562176e-14
PCC	HNRNPF	exon_skip_74070	4.379593e-01	7.934848e-11
PCC	RBM3	exon_skip_22170	-4.201164e-01	1.619953e-10
PCC	RBM3	exon_skip_206250	-5.086581e-01	1.472680e-14
PCC	HNRNPF	exon_skip_206250	4.225678e-01	4.576243e-10
PCC	RBM3	exon_skip_222079	-4.417661e-01	1.375834e-11
TC	ZNF326	exon_skip_105984	-4.491334e-01	3.633788e-09
TC	NUP42	exon_skip_105984	5.577480e-01	3.248269e-14
TC	RBFOX2	exon_skip_142249	7.016152e-01	1.393527e-24
TC	ELAVL4	exon_skip_142249	6.717819e-01	5.950560e-22
TC	ZNF326	exon_skip_142249	-4.646204e-01	8.798898e-10
TC	MATR3	exon_skip_142249	5.347707e-01	5.417743e-13
TC	KHDRBS2	exon_skip_142249	7.284277e-01	3.057520e-27
TC	KHDRBS3	exon_skip_142249	5.481619e-01	1.078665e-13
TC	RBM24	exon_skip_142249	6.829282e-01	6.735795e-23
TC	HNRNPA0	exon_skip_142249	5.627948e-01	1.700040e-14
TC	PUM1	exon_skip_142249	5.480762e-01	1.090113e-13
TC	HNRNPD	exon_skip_142249	5.219223e-01	2.387340e-12
TC	NUP42	exon_skip_142249	5.864969e-01	6.979498e-16
TC	RALYL	exon_skip_142249	6.679080e-01	1.241224e-21
TC	PTBP3	exon_skip_142249	4.491914e-01	3.614989e-09
TC	CELF1	exon_skip_142249	5.314659e-01	7.981623e-13
TC	HNRNPH2	exon_skip_142249	5.739921e-01	3.883936e-15
TC	ESRP1	exon_skip_142249	5.098023e-01	9.145310e-12
TC	NOVA1	exon_skip_142249	4.225904e-01	3.523232e-08
TC	ELAVL4	exon_skip_170931	6.775244e-01	1.262445e-21
TC	CNOT4	exon_skip_170931	4.263444e-01	4.808199e-08
TC	MBNL1	exon_skip_170931	4.739696e-01	7.891326e-10
TC	KHDRBS2	exon_skip_170931	7.014846e-01	1.115288e-23
TC	KHDRBS3	exon_skip_170931	6.141576e-01	5.026015e-17
TC	RBM24	exon_skip_170931	6.962150e-01	3.283857e-23
TC	HNRNPA0	exon_skip_170931	6.258328e-01	8.557523e-18
TC	PUM1	exon_skip_170931	6.303164e-01	4.250181e-18
TC	HNRNPDL	exon_skip_170931	4.091905e-01	1.821705e-07
TC	HNRNPD	exon_skip_170931	5.585093e-01	9.224925e-14
TC	NUP42	exon_skip_170931	5.754484e-01	1.087463e-14
TC	RALYL	exon_skip_170931	6.677215e-01	7.702578e-21
TC	EIF4G2	exon_skip_170931	4.640178e-01	1.963660e-09
TC	PTBP3	exon_skip_170931	5.540296e-01	1.591598e-13
TC	CPEB4	exon_skip_170931	4.932991e-01	1.232861e-10
TC	CELF1	exon_skip_170931	5.364560e-01	1.252450e-12
TC	CPEB1	exon_skip_170931	4.553698e-01	4.236111e-09
TC	YBX2	exon_skip_170931	4.034201e-01	2.805010e-07
TC	SRSF2	exon_skip_53303	-4.227580e-01	1.596460e-07
TC	RBFOX2	exon_skip_53303	-5.140186e-01	6.047022e-11
TC	ELAVL4	exon_skip_53303	-5.223431e-01	2.608195e-11
TC	MATR3	exon_skip_53303	-5.180327e-01	4.042750e-11
TC	ILF2	exon_skip_53303	-4.015924e-01	7.293869e-07
TC	KHDRBS2	exon_skip_53303	-5.268650e-01	1.635955e-11
TC	KHDRBS3	exon_skip_53303	-4.681269e-01	4.240865e-09
TC	HNRNPA0	exon_skip_53303	-5.207462e-01	3.070193e-11
TC	PUM1	exon_skip_53303	-4.067336e-01	5.091399e-07
TC	HNRNPDL	exon_skip_53303	-4.464021e-01	2.574461e-08
TC	HNRNPD	exon_skip_53303	-4.441661e-01	3.077798e-08
TC	RALYL	exon_skip_53303	-4.959446e-01	3.477838e-10
TC	PTBP1	exon_skip_53303	4.025146e-01	6.841412e-07
TC	HNRNPH2	exon_skip_53303	-5.246544e-01	2.056718e-11
TC	ESRP1	exon_skip_53303	-4.556958e-01	1.208659e-08
TC	NOVA1	exon_skip_53303	-5.404472e-01	3.863477e-12
TC	ZNF326	exon_skip_115687	-4.307795e-01	1.299800e-08
TC	RBM47	exon_skip_115687	4.482405e-01	2.785219e-09
TC	PCBP4	exon_skip_115687	-5.729257e-01	2.444310e-15
TC	PTBP3	exon_skip_115687	4.532981e-01	1.753581e-09
TC	ELAVL4	exon_skip_150539	5.929234e-01	1.808317e-16
TC	MBNL1	exon_skip_150539	4.658946e-01	6.073524e-10
TC	KHDRBS2	exon_skip_150539	6.075154e-01	2.058006e-17
TC	KHDRBS3	exon_skip_150539	5.498860e-01	6.043437e-14
TC	RBM24	exon_skip_150539	5.309549e-01	6.045499e-13
TC	HNRNPA0	exon_skip_150539	5.328891e-01	4.809345e-13
TC	PUM1	exon_skip_150539	5.584202e-01	2.039215e-14
TC	HNRNPD	exon_skip_150539	4.653110e-01	6.421123e-10
TC	NUP42	exon_skip_150539	4.551672e-01	1.661733e-09
TC	RALYL	exon_skip_150539	5.490968e-01	6.671780e-14
TC	EIF4G2	exon_skip_150539	4.256809e-01	2.222896e-08
TC	PTBP3	exon_skip_150539	5.100897e-01	6.517292e-12
TC	CPEB4	exon_skip_150539	4.436527e-01	4.712207e-09
TC	CELF1	exon_skip_150539	4.662122e-01	5.892045e-10
TC	CPEB1	exon_skip_150539	4.164578e-01	4.761197e-08
TC	RBM3	exon_skip_51754	-6.213323e-01	3.953032e-15
TC	ELAVL4	exon_skip_118971	7.102365e-01	4.264903e-25
TC	CNOT4	exon_skip_118971	4.188811e-01	5.816101e-08
TC	PCBP4	exon_skip_118971	-4.053468e-01	1.676582e-07
TC	RBM24	exon_skip_118971	7.278650e-01	7.497087e-27
TC	HNRNPA0	exon_skip_118971	5.219244e-01	3.301003e-12
TC	NUP42	exon_skip_118971	4.946580e-01	6.068058e-11
TC	RALYL	exon_skip_118971	7.139846e-01	1.852950e-25
TC	CELF1	exon_skip_118971	5.852985e-01	1.263448e-15
TC	HNRNPH2	exon_skip_118971	4.957204e-01	5.443153e-11
TC	ESRP1	exon_skip_118971	4.794985e-01	2.749226e-10
TC	SRSF2	exon_skip_74070	-4.667352e-01	1.353554e-09
TC	MSI1	exon_skip_74070	4.675438e-01	1.256873e-09
TC	ELAVL4	exon_skip_74070	-4.925674e-01	1.149803e-10
TC	RBM3	exon_skip_74070	-5.742927e-01	1.030759e-14
TC	IGF2BP2	exon_skip_74070	4.529956e-01	4.631963e-09
TC	RBM24	exon_skip_74070	-4.288885e-01	3.530999e-08
TC	HNRNPA0	exon_skip_74070	-4.684813e-01	1.153102e-09
TC	NUP42	exon_skip_74070	-4.778951e-01	4.783736e-10
TC	RALYL	exon_skip_74070	-5.151094e-01	1.122719e-11
TC	HNRNPH2	exon_skip_74070	-4.739051e-01	6.968411e-10
TC	ESRP1	exon_skip_74070	-4.482407e-01	7.002126e-09
TC	NOVA1	exon_skip_74070	-6.003658e-01	2.957786e-16
TC	RBM47	exon_skip_22170	5.119127e-01	4.563585e-12
TC	PCBP4	exon_skip_22170	-5.295543e-01	6.028136e-13
TC	SRSF2	exon_skip_206250	-4.871942e-01	1.700378e-10
TC	MSI1	exon_skip_206250	4.247657e-01	4.440472e-08
TC	RBM6	exon_skip_206250	4.029122e-01	2.424465e-07
TC	RBM3	exon_skip_206250	-5.964344e-01	4.126607e-16
TC	IGF2BP2	exon_skip_206250	4.270132e-01	3.703421e-08
TC	RBM24	exon_skip_206250	-4.323191e-01	2.400054e-08
TC	HNRNPA0	exon_skip_206250	-4.991445e-01	5.126326e-11
TC	HNRNPDL	exon_skip_206250	-4.034124e-01	2.335188e-07
TC	NUP42	exon_skip_206250	-5.026651e-01	3.568747e-11
TC	HNRNPH2	exon_skip_206250	-5.033111e-01	3.337775e-11
TC	ESRP1	exon_skip_206250	-4.619612e-01	1.846320e-09
TC	NOVA1	exon_skip_206250	-6.078765e-01	7.919620e-17
TC	PCBP4	exon_skip_222079	-5.536684e-01	3.111690e-14
TC	HNRNPA0	exon_skip_230427	4.364141e-01	9.765222e-08
TC	HNRNPA0	exon_skip_203306	4.241705e-01	2.659908e-07
TC	SRSF2	exon_skip_205090	5.720863e-01	3.072549e-14
TC	MSI1	exon_skip_205090	-4.379383e-01	2.601832e-08
TC	ELAVL4	exon_skip_205090	5.076394e-01	4.547567e-11
TC	RALYL	exon_skip_205090	5.262306e-01	6.473726e-12
TC	PTBP1	exon_skip_205090	-4.951425e-01	1.580619e-10
TC	EWSR1	exon_skip_205090	4.232896e-01	8.320790e-08
TC	SRSF5	exon_skip_205090	4.416637e-01	1.918775e-08
TC	NOVA1	exon_skip_205090	6.810719e-01	1.659097e-21
TC	RBMS2	exon_skip_228022	4.036855e-01	1.317335e-07
TC	SRSF2	exon_skip_257898	4.780068e-01	5.750523e-08
TC	NOVA1	exon_skip_257898	4.757545e-01	6.767887e-08

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RelatedDrugs for EPB41L2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for EPB41L2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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